A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations.

Journal article

Idiopathic dilated cardiomyopathy is a recognised manifestation of mitochondrial disease due to specific mitochondrial (mt) DNA mutations. However, whether mtDNA polymorphisms predispose to sporadic dilated cardiomyopathy is not known. We analysed two populations with this disorder for a general mtDNA variant (T16189C), previously implicated in susceptibility to type 2 diabetes. We noted an increased frequency of the polymorphism in both populations compared with controls (p=0.002). The polymorphism occurred on different mtDNA backgrounds, suggesting that it might be a functional variant. This association of an mtDNA variant with increased susceptibility to dilated cardiomyopathy provides evidence for a mitochondrial cause in sporadic disease.

Authors: Khogali, S; Mayosi, B; Beattie, J; McKenna, W; Watkins, H

• Publication status: Published
• Journal: Lancet
• Volume: 357
• Issue: 9264
• Pages: 1265-1267
• Publication date: 2001-04-01
• DOI: 10.1016/s0140-6736(00)04422-6
• EISSN: 1474-547X
• ISSN: 0140-6736
• Language: English
• Keywords: Humans; Genetics, Population; Genetic Variation; Polymorphism, Genetic; African Continental Ancestry Group; Middle Aged; Adult; Cardiomyopathy, Dilated; Aged; European Continental Ancestry Group; Adolescent; Europe; DNA, Mitochondrial; South Africa